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last update : 25/11/2008
Symbol PVSD
Location 1p13
Name pelviscapular dysplasia
Other name(s) Cousin disease
Corresponding gene TBX15
Main clinical features
  • congenital dwarfism, facial dysmorphism, and several skeletal anomalies, most strikingly bilateral agenesis of the ala (wings) of the scapula and hypoplasia of the ala of the ilium and acetabulum, resulting in hip dislocation
  • moderate psychomotor retardation associated
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    mental retardation
    Type disease
    Remark(s) mutations predicted the synthesis of TBX15 protein that had an intact T-box but lacked a significant portion of the C-terminal region and had instead a stretch of 78 (or 77) missense amino acids that included five cysteine residues